Varaico: Literature-Extracted Genetic Variants

BCL11B

362 papers

RefSeq Summary

This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene h...

Pfam Domains

CCHC_BCL-11Aaa 55–82UCSCBCL-11A-like CCHC zinc finger

zf-C2H2aa 427–449UCSCZinc finger, C2H2 type

zf-C2H2aa 455–477UCSCZinc finger, C2H2 type

zf-C2H2aa 796–818UCSCZinc finger, C2H2 type

zf-C2H2_16aa 824–848UCSCC2H2 zinc finger

zf-C2H2aa 854–877UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

BCL11 transcription factor B

HGNC Previous Symbol

ZNF856B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

17 papers

NM_138576.4

p.N807K

c.2421C>A

Surrounding Variants

18 papers

NM_138576.4

p.N807K

c.2421C>G

2 papers

NM_138576.4

p.C808R

c.2422T>C

2 papers

NM_138576.4

p.N810H

c.2428A>C

1 paper

NM_138576.4

p.N810K

c.2430C>G

1 paper

NM_138576.4

p.N810K

c.2430C>A

2 papers

NM_138576.4

p.V813fs

c.2437_2438fs

1 paper

NM_138576.4

p.Y800*

c.2400C>G

1 paper

NM_138576.4

p.Y800*

c.2400C>A

1 paper

NM_138576.4

p.R815fs

c.2443_2444fs

1 paper

NM_138576.4

p.R815Q

c.2444G>A

2 papers

NM_138576.4

p.R815delFs

c.2443delG

1 paper

NM_138576.4

p.S817fs

c.2449_2450fs